Tag : Neurological

Washington: ATG4D assists in the autophagy process, which cells utilise to digest and recycle harmed proteins and other damaged parts of the cell to maintain health. Although all cells in the body use autophagy, neurons rely on it more than other cells do in order to survive. However, little is understood about the role ATG4D plays in maintaining healthy neurons. An Italian breed of dogs noted for its fluffy coats and skill at finding truffles, the Lagotto Romagnolo, was found to have a hereditary neurological disorder in a 2015 study. This finding provided the first indication of the impact of ATG4D on brain health. ATG4D mutations, aberrant behaviour, cerebellar atrophy, problems with motor coordination and eye movement, and other symptoms were present in the affected pups. While this 2015 study invigorated research interest in ATG4D's role in the brain, scientists had yet to connect ATG4D to any neurological disease in humans. "Among genetic diseases, we've solved many of the lower hanging fruits," said May Christine Malicdan, M.D., Ph.D., NHGRI staff scientist and senior author of the study. "Now, we're reaching for the higher fruits -- genes like ATG4D that are more difficult to analyze -- and we have the genomic and cellular tools to do so." Computational analyses predicted that the three children's ATG4D mutations would produce dysfunctional proteins. However, three other genes in the human genome serve very similar roles to ATG4D, and in some cells, these other genes may compensate for a loss of ATG4D. While all cells in the body share the same genome, some genes are more important for certain cells. When the researchers studied the children's ATG4D mutations in skin cells, the variants did not affect the cells' recycling p ...